📤New call on the Collaborative Genetic webpage! DECADE-Deciphering the CACNA1E developmental and epileptic encephalopathy, from Dpt. of Neurology and Epileptology, University Hospital Tübingen, Germany (Prof. Holger Lerche). epi-care.eu/collaborative-ge… Do not miss it!

Thanks to our friends at TSC for sharing this opportunity open across the epilepsies. REN members check this out and share with prospects.

It's an opportunity to connect with fellow advocates & friends, to learn from the top experts and revel in meaningful connections. You'll find friends that will feel like family and leave feeling inspired, empowered and ready to take on the world. There's something for everyone!

In the past two months I attended six rare #epilepsy and #neurodevelopmentaldisorder conferences and rearch round tables. Attached what I learned.

If you are newly diagnosed or finally coming up for some air, this episode is for you. Please send this episode to a family whose child was recently diagnosed with a #RareDisease effieparks.com/podcast/episo…

Did you know there are phases of a seizure? Dr. Kristen Park, Pediatric Neurologist at Children’s Hospital of Colorado, explains the basics of seizures in Epilepsy Explained. Watch the full episode: bit.ly/3YKT8eS #epilepsyexplained #seizure #epilepsy

Interesting opportunity with REN's collaborator @LalDennis. Something to share with your medical and scientific networks.

RT @slava__bobrov: neuron trying to connect to other neurons

📢📢📢:This is big news for the DEEs!!! ir.longboardpharma.com/news-…

June is #CDKL5Awareness month and @cdkl5_ifcr is taking over this channel to shout out about #CDKL5 Deficiency Disorder all day long! Want to learn more about this rare disease? Check out the information available at CDKL5.com.

Our 6th #CDKL5 Family Education & Awareness Conference is happening now! Thank you to our event sponsors!

Facts ✅ tune in to this 10 min episode and please let me know if I missed anything. #GeneticTesting #CTNNB1

This mom needs your help. In order for my daughter to get life changing treatment. I need Protect Rare HR 6094. If you have time, please tag your Congress and Senate member in this post. Email them on their website with this one liner “I support Protect Rare HR 6094” or call their office and just say that same thing “I support Protect Rare HR 6094.” #raredisease #insurance #healthcare #medicaid #medicare

And thx to @helenc327 for sharing our strategies to tackle @Ring14USA and #UBA5 disease (among others!) - a Mefford Lab team effort! @edith_almanza_ @ebonkowski @esmatfa @sohamsg90 @cwlaflamme @nitchouras and X-less Aidan and Athena #MeffLabDreamTeam

This was such a great meeting! 🗽 It was a privilege to attend the INSYNC-AS meeting representing the Loulou Foundation (#CDKL5) and to meet @cureangelman and @curestxbp1 and @RSRT and @FamilieSCN2A and so many experts from academia, industry and the regulatory world. Thank you @cureangelman and @SFARIorg for hosting us! I have 19 pages of notes and a brain full of ideas 💚💙💜

Headed to @MDBRide4Rare and Riding for @Ring14USA. Want to know what it’s all about? Watch this short video. This was the first event I did after losing Marie - I was raw. But this was important! Link to donate in the comments. youtu.be/tN-ziuZW22k?si=RS4j…

“Mommy can I tell you something? I’m scared.” I always tell her it’s ok to be scared. It’s ok to cry. We flew into Atlanta to go to her drug trial clinic, hopefully for the last time if FDA approves govorestat. What we thought we be six months turned into years. It’s way too much for a little one. It started at 3yo she’s almost 7. Pediatric drug trials are cruel but without it she would have no treatment. This is rare disease. #raredisease #galactosemia

So sorry I was slow responding to your email, I was tied up watching this over and over again

Courageous Parents Network had the pleasure of presenting Dr. Zeena Audi-Saba from Hassenfeld Children's Hospital @NYULangone with the Margaret S. Lindsay Courageous Provider Award. Congratulations Dr. Audi-Saba and thank you for your leadership in pediatric palliative care.

During the SCN2A Family & Professional Conference, we will recognize 4 professionals for their extraordinary efforts that align our Core Values. The deadline for nominations is June 21st. For more info & to nominate today: docs.google.com/forms/d/e/1F…